FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3136508374> ?p ?o ?g. }

• W3136508374 abstract "Mutations in the GBA1 gene encoding glucocerebrosidase (GCase) are linked to Gaucher (GD) and Parkinson's Disease (PD). Since some GD and PD patients develop ocular phenotypes, we determined whether ocular phenotypes might result from impaired GCase activity and the corresponding accumulation of glucosylceramide (GluCer) and glucosylsphingosine (GluSph) in the Gba1D409V/D409V knock-in (Gba KI/KI; KI) mouse. Gba KI mice developed age-dependent pupil dilation deficits to an anti-muscarinic agent; histologically, the iris covered the anterior part of the lens with adhesions between the iris and the anterior surface of the lens (posterior synechia). This may prevent pupil dilation in general, beyond an un-responsiveness of the iris to anti-muscarinics. Gba KI mice displayed atrophy and pigment dispersion of the iris, and occlusion of the iridocorneal angle by pigment-laden cells, reminiscent of secondary open angle glaucoma. Gba KI mice showed progressive thinning of the retina consistent with retinal degeneration. GluSph levels were increased in the anterior and posterior segments of the eye, suggesting that accumulation of lipids in the eye may contribute to degeneration in this compartment. We conclude that the Gba KI model provides robust and reproducible eye phenotypes which may be used to test for efficacy and establish biomarkers for GBA1-related therapies." @default.
• W3136508374 created "2021-03-29" @default.
• W3136508374 creator A5000762028 @default.
• W3136508374 creator A5001861360 @default.
• W3136508374 creator A5006272129 @default.
• W3136508374 creator A5010247449 @default.
• W3136508374 creator A5011297076 @default.
• W3136508374 creator A5012580642 @default.
• W3136508374 creator A5014401391 @default.
• W3136508374 creator A5019155943 @default.
• W3136508374 creator A5023963765 @default.
• W3136508374 creator A5030933788 @default.
• W3136508374 creator A5032465645 @default.
• W3136508374 creator A5050078182 @default.
• W3136508374 creator A5054241826 @default.
• W3136508374 creator A5057193330 @default.
• W3136508374 creator A5063433547 @default.
• W3136508374 creator A5065923090 @default.
• W3136508374 creator A5071752257 @default.
• W3136508374 creator A5073095750 @default.
• W3136508374 creator A5076020755 @default.
• W3136508374 creator A5082214212 @default.
• W3136508374 creator A5085270299 @default.
• W3136508374 creator A5086370517 @default.
• W3136508374 creator A5089358617 @default.
• W3136508374 date "2021-03-16" @default.
• W3136508374 modified "2023-10-15" @default.
• W3136508374 title "Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity" @default.
• W3136508374 cites W1418744509 @default.
• W3136508374 cites W1484394741 @default.
• W3136508374 cites W1841005193 @default.
• W3136508374 cites W1980315577 @default.
• W3136508374 cites W1982224533 @default.
• W3136508374 cites W1997935934 @default.
• W3136508374 cites W2003384166 @default.
• W3136508374 cites W2020167843 @default.
• W3136508374 cites W2028245787 @default.
• W3136508374 cites W2039736612 @default.
• W3136508374 cites W2052264103 @default.
• W3136508374 cites W2055881608 @default.
• W3136508374 cites W2056753312 @default.
• W3136508374 cites W2059088084 @default.
• W3136508374 cites W2096088667 @default.
• W3136508374 cites W2096578658 @default.
• W3136508374 cites W2104301336 @default.
• W3136508374 cites W2119737193 @default.
• W3136508374 cites W2124181868 @default.
• W3136508374 cites W2144185527 @default.
• W3136508374 cites W2150132566 @default.
• W3136508374 cites W2151378459 @default.
• W3136508374 cites W2151917132 @default.
• W3136508374 cites W2168784140 @default.
• W3136508374 cites W2301357153 @default.
• W3136508374 cites W2538993809 @default.
• W3136508374 cites W2555801439 @default.
• W3136508374 cites W2588291989 @default.
• W3136508374 cites W2589161214 @default.
• W3136508374 cites W2593191965 @default.
• W3136508374 cites W2605431828 @default.
• W3136508374 cites W2606796187 @default.
• W3136508374 cites W2615285606 @default.
• W3136508374 cites W2616327791 @default.
• W3136508374 cites W2738624927 @default.
• W3136508374 cites W2802940822 @default.
• W3136508374 cites W2807503466 @default.
• W3136508374 cites W2887173236 @default.
• W3136508374 cites W2897232978 @default.
• W3136508374 cites W2899144252 @default.
• W3136508374 cites W2908509491 @default.
• W3136508374 cites W2913824836 @default.
• W3136508374 cites W2920835572 @default.
• W3136508374 cites W2928016138 @default.
• W3136508374 cites W2940532553 @default.
• W3136508374 cites W2964808218 @default.
• W3136508374 cites W2980547278 @default.
• W3136508374 cites W3014532140 @default.
• W3136508374 doi "https://doi.org/10.1038/s41598-021-85528-4" @default.
• W3136508374 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7971029" @default.
• W3136508374 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33727605" @default.
• W3136508374 hasPublicationYear "2021" @default.
• W3136508374 type Work @default.
• W3136508374 sameAs 3136508374 @default.
• W3136508374 citedByCount "4" @default.
• W3136508374 countsByYear W31365083742021 @default.
• W3136508374 countsByYear W31365083742022 @default.
• W3136508374 crossrefType "journal-article" @default.
• W3136508374 hasAuthorship W3136508374A5000762028 @default.
• W3136508374 hasAuthorship W3136508374A5001861360 @default.
• W3136508374 hasAuthorship W3136508374A5006272129 @default.
• W3136508374 hasAuthorship W3136508374A5010247449 @default.
• W3136508374 hasAuthorship W3136508374A5011297076 @default.
• W3136508374 hasAuthorship W3136508374A5012580642 @default.
• W3136508374 hasAuthorship W3136508374A5014401391 @default.
• W3136508374 hasAuthorship W3136508374A5019155943 @default.
• W3136508374 hasAuthorship W3136508374A5023963765 @default.
• W3136508374 hasAuthorship W3136508374A5030933788 @default.
• W3136508374 hasAuthorship W3136508374A5032465645 @default.
• W3136508374 hasAuthorship W3136508374A5050078182 @default.
• W3136508374 hasAuthorship W3136508374A5054241826 @default.
• W3136508374 hasAuthorship W3136508374A5057193330 @default.

• next